Revel Score:
ENST00000450095
0.922
ENST00000378842 (MANE Select)
0.922
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Genomes Max Group AF
0.000008 (AFR)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34649466C>T , CM000671.2:g.34649466C>T | GRCh38 |
| NC_000009.11:g.34649463C>T , CM000671.1:g.34649463C>T | GRCh37 |
| NC_000009.10:g.34639463C>T | NCBI36 |
| NG_009029.1:g.7829C>T | |
| NG_028966.1:g.2282C>T | |
| NG_009029.2:g.7878C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*549C>T | ENSP00000509954.1:n.*549C>T | |
| ENST00000378842.8:c.961C>T MANE Select | ENSP00000368119.4:p.His321Tyr | |
| ENST00000378842.7:c.961C>T | ENSP00000368119.3:p.His321Tyr | |
| ENST00000450095.6:c.634C>T | ENSP00000401956.2:p.His212Tyr | |
| ENST00000488412.2:n.545C>T | ||
| ENST00000489643.6:n.1369C>T | ||
| ENST00000554550.5:c.*581C>T | ENSP00000451435.1:n.*581C>T | |
| ENST00000554638.5:n.1433C>T | ||
| ENST00000555020.5:n.1750C>T | ||
| ENST00000555754.1:n.409C>T | ||
| ENST00000556278.1:c.432+1010C>T | ENSP00000451792.1:n.432+1010C>T | |
| ENST00000557706.5:n.1536C>T | ||
| NM_000155.3:c.961C>T | NP_000146.2:p.His321Tyr | |
| NM_001258332.1:c.634C>T | NP_001245261.1:p.His212Tyr | |
| NM_000155.4:c.961C>T MANE Select | NP_000146.2:p.His321Tyr | |
| NM_001258332.2:c.634C>T | NP_001245261.1:p.His212Tyr |